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facial paresis, hereditary congenital, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

facial paresis, hereditary congenital, 3

MONDO:0013880

Also known as:HOXB1 congenital hereditary facial paralysis-variable hearing loss syndromecongenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1facial paresis, hereditary congenital, type 3

Overview

Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.

GeneticsAutosomal recessive · HOXB1 (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Impaired mastication, Facial palsy, Tented upper lip vermilion, and Anteverted nares and others; and common findings: Epicanthus, Broad forehead, Short philtrum, and Micrognathia. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Difficulty swallowing (dysphagia), Delayed speech and language development, Dysarthria

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HOXB1 encodes homeobox B1 (301 aa). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Highest expression in Testis (0.8 TPM) and Esophagus Mucosa (0.5 TPM).

Facial paresis, hereditary congenital, 3 is associated with mutations in the HOXB1 gene on chromosome 17.

The HOXB1 protein participates in HOXB1 maintains activation of HOXB1 chromatin, HOXB1 gene is transcribed, and HOXB1 activates HOXA2 expression pathways.

HOXB1 is classified as a druggable target (Transcription Factor category) with score 10.4.

Diagnosis

Genetic testing for HOXB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 always present features, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for facial paresis, hereditary congenital, 3.

3 publications have been identified in PubMed for facial paresis, hereditary congenital, 3. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Almpani K (2026). [PMID: 40611650](https://pubmed.ncbi.nlm.nih.gov/40611650/). *Cleft Palate Craniofac J*. [Basic Science / Preclinical]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
Liberton DK (2024). [PMID: 38791829](https://pubmed.ncbi.nlm.nih.gov/38791829/). *Int J Environ Res Public Health*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614744

GARD

Genetic and Rare Diseases Info Center

GARD:18437

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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facial paresis, hereditary congenital, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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